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Optic pathway gliomas in neurofibromatosis-1: controversies and recommendations.

Listernick(R),Ferner(RE),Liu(GT),Gutmann(DH) Ann Neurol 2007-03-00

...NF1), account for significant morbidity in young children with NF1. Overwhelmingly a tumor of children younger than 7 ye...

The catalytic domain of the neurofibromatosis type 1 gene product stimulates ra…

Xu(GF),Lin(B),Tanaka(K),Dunn(D),Wood(D),Gest… Cell 1990-11-16

...NF1) revealed a striking similarity among NF1, yeast IRA proteins, and mammalian GAP (GTPase-activating protein). Using ...

The GAP-related domain of the neurofibromatosis type 1 gene product interacts w…

Martin(GA),Viskochil(D),Bollag(G),McCabe(PC)… Cell 1990-11-16

...NF1 cDNA encoding the GAP-related domain (NF1 GRD) was expressed, immunoaffinity purified, and assayed for effects on N-...

Linkage analysis of neurofibromatosis type 1. Study of a homogeneous North Ital…

Clementi(M),Murgia(A),Anglani(F),Tenconi(R),… Hum Genet 1991-05-00

...NF1 mutations are allelic and that the NF1 locus resides in the proximal region of chromosome 17q. Close linkage of NF1 ...

Recurrence of a nonsense mutation in the NF1 gene causing classical neurofibrom…

Estivill(X),Lázaro(C),Casals(T),Ravella(A) Hum Genet 1991-12-00

...NF1 gene. Thus, a specific search for this mutation should be performed when studying NF1 sporadic or familiar cases for...

Vitamin D deficiency associated with number of neurofibromas in neurofibromatos…

Lammert(M),Friedman(JM),Roth(HJ),Friedrich(R… J Med Genet 2006-10-00

...NF1. We measured serum 25-hydroxyvitamin D concentrations in 55 patients with NF1 and 58 healthy controls, and correlate...

Social learning and amygdala disruptions in Nf1 mice are rescued by blocking p2…

Molosh(AI),Johnson(PL),Spence(JP),Arendt(D),… Nat Neurosci 2014-11-00

...Nf1 allele (Nf1(+/-)), along with greater activation of the mitogen-activated protein kinase pathway in neurons from the...

Synchronous multiple colonic adenocarcinomas arising in patient with neurofibro…

Kim(IY),Cho(MY),Kim(YW) Ann Surg Treat Res 2014-09-00

...NF1). NF1 is an autosomal dominant inherited disorder and patients with NF1 have high risk for both benign and malignant...

Recurrent multilocular mandibular giant cell granuloma in neurofibromatosis typ…

Friedrich(RE),Grob(TJ),Hollants(S),Zustin(J)… J Craniomaxillofac Surg 2016-08-00

...NF1), an inborn multisystem disorder. Recently, the development of GCG in NF1 was attributed to second hit mutations in ...

A genotype-first approach identifies high incidence of NF1 pathogenic variants …

Safonov(A),Nomakuchi(TT),Chao(E),Horton(C),D… medRxiv 2023-08-10

...NF1 gene cause neurofibromatosis type 1 (NF1), a genetic disorder characterized by complete penetrance, prevalence of 1 ...

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